E24G (p.Glu24Gly) variant of COL6A1 (Collagen alpha-1(VI) chain)
E24G (p.Glu24Gly) in COL6A1 (Collagen alpha-1(VI) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
E24G (p.Glu24Gly) variant details
- p.Glu24Gly
- gnomAD 21-45981921-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.169
- REVEL 0.16
- MetaLR 0.38
- MetaSVM -0.64
- CADD 4.34
- PolyPhen-2 0.00
- SIFT 0.40
- Population evidence available
- Structural context available
- Literature evidence available